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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
Allele Registry
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Canonical Allele Identifier:
PA241293
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25126
ClinVar RCV Id:
RCV000175533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000146.2:p.Pro36Leu
CA241292
NM_000155.4:c.107C>T