ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916003890
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000178047
RCV000256023
RCV000790805
ClinVar Variation:
92503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Thr89Ala
CA220408
NM_001201401.2:c.265A>G