ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830429899
Gene: BGLAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954642.1:p.Ala23Val
CA1156080
NM_199173.6:c.68C>T