ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094994
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4539
ClinVar RCV Id:
RCV000004797
RCV003581554
RCV003311642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116056.3:p.Ala212Pro
CA277926
NM_032667.6:c.634G>C