Canonical Allele Identifier: PA2741815538
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 2844169
ClinVar RCV Id: RCV003716712

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000352.1:p.Val566Leu
CA408404993
NM_000361.3:c.1696G>T
CA408404994
NM_000361.3:c.1696G>C