ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100804
Gene: GP1BA
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000164.5:p.Leu73Phe
NM_000173.7:c.217C>T