Allele Registry

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.

Canonical Allele Identifier: PA274393

Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 189113

ClinVar RCV Id: RCV000169525 RCV003137698

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Gly553Arg	CA274392 NM_000153.4:c.1657G>A CA390745975 NM_000153.4:c.1657G>C