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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:
CA1468148261
Gene: ALB
HGNC
NCBI
Linked Data
dbSNP Id:
rs1718654914
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.73404046_73404061del , CM000666.2:g.73404046_73404061del
GRCh38
NC_000004.11:g.74269763_74269778del , CM000666.1:g.74269763_74269778del
GRCh37
NC_000004.10:g.74488627_74488642del
NCBI36
NG_009291.1:g.4792_4807del
Transcript Alleles
HGVS
Amino-acid change
ENST00000441319.5:c.48-323_48-308del
ENSP00000392541.1:n.48-323_48-308del
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Search 100 bp 3'