ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573173192
Gene: P4HB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000909.2:p.Phe206Val
CA8842907
NM_000918.4:c.616T>G