ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645428692
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000255537
RCV000507823
RCV000590447
ClinVar Variation:
265349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Tyr319Cys
CA7297190
NM_000153.4:c.956A>G