ClinGen Allele Registry
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Canonical Allele Identifier:
PA645418500
Gene: COL3A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.1:p.Pro619Leu
CA074732
NM_000090.3:c.1856C>T