ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658663964
Gene: BLTP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000576899
RCV001755963
ClinVar Variation:
487550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056127.2:p.Arg968Cys
CA104783893
NM_015312.4:c.2902C>T