ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645428774
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000498864
RCV000668258
ClinVar Variation:
431995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Tyr490Asn
CA264685589
NM_000153.4:c.1468T>A