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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1845634317
Gene: GALT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34646612_34646615delinsTCGG , CM000671.2:g.34646612_34646615delinsTCGG
GRCh38
NC_000009.11:g.34646609_34646612delinsTCGG , CM000671.1:g.34646609_34646612delinsTCGG
GRCh37
NC_000009.10:g.34636609_34636612delinsTCGG
NCBI36
NG_009029.1:g.4975_4978delinsTCGG
NG_009029.2:g.5024_5027delinsTCGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000450095.6:c.-295_-292delinsTCGG
ENSP00000401956.2:n.-295_-292delinsTCGG
ENST00000605275.1:n.209-65_209-62delinsTCGG
NM_000155.3:c.-93_-90delinsTCGG
NP_000146.2:n.-93_-90delinsTCGG
NM_001258332.1:c.-295_-292delinsTCGG
NP_001245261.1:n.-295_-292delinsTCGG
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