ClinGen Allele Registry
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Canonical Allele Identifier:
PA645429880
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
330925
ClinVar RCV:
RCV000262278
RCV003940223
ClinVar Variation:
314747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Glu525Lys
CA7296979
NM_000153.4:c.1573G>A