ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499234434
Gene: P4HB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000909.2:p.Ala144Thr
CA8842976
NM_000918.4:c.430G>A