ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139685715
Gene: P4HB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000909.2:p.Asp383Val
CA401507280
NM_000918.4:c.1148A>T