ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499229077
Gene: GALC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Val247Phe
CA390749292
NM_000153.4:c.739G>T