ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3087696349
Gene: THBD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000352.1:p.Asp486Asn
CA408405485
NM_000361.3:c.1456G>A